MFF

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

  0.74

• neurodegenerative disease

  0.44

• encephalopathy due to mitochondrial and peroxisomal fission defect

  0.42

• corneal ulcer

  0.29

• glaucoma

  0.28

• open-angle glaucoma

  0.27

• mitochondrial encephalomyopathy

  0.26

• Global developmental delay

  0.26

• exostosis

  0.25

• urolithiasis

  0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)